D69G (p.Asp69Gly) variant of AQP4 (Aquaporin-4)
D69G (p.Asp69Gly) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
D69G (p.Asp69Gly) variant details
- p.Asp69Gly
- ExAC rs746127378
- TOPMed rs746127378
- gnomAD rs746127378
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.58
- CADD 22.90
- PolyPhen-2 0.10
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available